Genetic screening practices at oocyte donation programs

Regulation of assisted reproductive technologies in the United States

Reassuring outcomes for single and coupled gay men using assisted reproductive technology

Guidelines for oocyte donation

Report on management of obstructive azoospermia

Protocols for tracking and witnessing samples and patients in assisted reproductive technology

INTRODUCTORY GENETICS COURSES OFten present recessive inheritance as a simple “truth”: if both parents carry one copy of a theoretical recessive gene for blue eyes, each child has a 25% chance of being born with azure orbs. If only it were that simple for cystic fibrosis. In the 2 years since the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommended widespread genetic testing to determine if prospective parents carried mutations associated with the disease, confusion over laboratory results has led some mothers to undergo unnecessary amniocentesis. (Additional information about the ACOG and ACMG recommendations is available at http: //www.ama-assn.org/ama/pub/category /9181.html.) There have also been “unconfirmed anecdotal reports” of mothers aborting fetuses based on bad information, said Michael Watson, PhD, at the annual meeting of the ACMG in March. Later, when a reporter asked a group of genetic counselors how many such abortions have occurred, one replied, “That’s thequestioneverybody’sasking.” In May, a symposium hosted by the Genetics and Public Policy Center, a year-old think tank funded by the Pew Charitable Trusts and housed at Johns Hopkins University, examined the question. While the symposium’s speakers quickly traced the misunderstandings to a failure by laboratories and physicians to follow ACOG and ACMG guidelines, the session also highlighted the dangers of poor genetics education for physicians.

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Emergency IVF versus ovarian tissue cryopreservation: decision making in fertility preservation for female cancer patients

Disparities in completion of genetic testing and counseling for Lynch syndrome in high-risk patients diagnosed with endometrial cancer (601)

Moving from awareness to action on preventing patient exposure to toxic environmental chemicals

New guidelines for genetic tests are welcome but insufficient

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

With all the current misinformation on social media platforms about the COVID-19 vaccine and its potential effects on fertility, it is essential for healthcare providers to have evidenced-based research to educate their patients, especially those who are trying to conceive, of the risks to mothers and fetuses of being unvaccinated. It is well known that COVID-19 infection puts pregnant women at higher risk of complications, including ICU admission, placentitis, stillbirth, and death. In February of 2021, the American College of Obstetricians and Gynecologists (ACOG), the American Society for Reproductive Medicine (ASRM), and the Society for Maternal-Fetal Medicine (SMFM) released a statement denying any link between COVID vaccination and infertility. ASRM later confirmed and stated that "everyone, including pregnant women and those seeking to become pregnant, should get a COVID-19 vaccine". In this review, we aim to provide a compilation of data that denies any link between vaccination and infertility for healthcare providers to be able to educate their patients based on evidence-based medicine. We also reviewed the effect of COVID-19 virus and vaccination on various parameters and processes that are essential to obtaining a successful pregnancy.

Fellow performance assessment after completion of the American society for reproductive medicine embryo transfer simulation certificate course

e13524 Background: Lynch Syndrome (LS), the most common form of hereditary colorectal cancer (CRC), is due to germline pathogenic variant (PV) in mismatch repair genes (MMR). Since 2009, the National Comprehensive Cancer Network (NCCN) recommends MMR screening for LS for all CRCs regardless of age. The American College of Medical Genetics and Genomics recommends patients with MMR deficiency or microsatellite instability (MSI) be referred for genetic testing. Despite these recommendations, compliance is low. The aim of this study was to evaluate compliance with LS screening and genetic testing in CRC. Methods: A single institution retrospective review of patients diagnosed with CRC from 2018-2021 was performed. A chart review of those diagnosed in 2018 and 2021 was analyzed and combined as a single population from pre and post COVID periods. A student’s T-Test was used to compare continuous variables and chi square for categorical variables within the two populations. The compliance with either MSI or MMR screening was calculated. Meeting criteria for genetic testing was defined as age less than 50, MSI-L/H or MMR deficient. These patients were then analyzed to determine the proportion of genetic referrals, genetic counseling, genetic testing and identification of LS. Results: 276 patients with CRC were reviewed, 153 in 2018, 123 in 2021. 71.2% were Caucasian and 58% male. There was no statistically significant difference in gender, race or ethnicity, however, there was a difference in age, with a younger average age in 2021 (67, 63; p = 0.014). 146 (53%) patients were screened for LS. 44 (16%) with MSI, 19 (7%) MMR and 82 (30%) with both. 78 patients met criteria for genetic testing; 47 due to age alone, 6 age and positive LS screening and 25 screening alone. 35% (27/78) of those meeting criteria were referred to genetics, of which 63% (17/27) completed their appointment, 63% (17/27) were tested, and 37% (10/27) had a PV identified. Conclusions: Despite guidelines for LS screening, compliance is low with only half of CRC patients appropriately screened at our institution. Even patients with positive screening and those less than 50 were not referred for genetic testing. However, of referred patients, 63% completed their appointment and all those were tested. This supports the idea that poor compliance with genetic testing is not due to patient compliance, but shows a systems issue at a higher level. To improve LS identification, reflex screening and genetic referrals are paramount. In our study, 59% of patients with germline testing had a PV, however 65% of those meeting criteria were never referred, which could reflect a proportion of patients with LS going unidentified. This validates the 2022 NCCN guidelines recommending genetic testing for all CRCs despite age or MSI/MMR status. By removing the barrier of MMR testing, more genetic testing will likely be done. [Table: see text]